Format

Send to:

Choose Destination
    • Showing Current items.

    DEFB129 defensin beta 129 [ Homo sapiens (human) ]

    Gene ID: 140881, updated on 8-Oct-2018

    Summary

    Official Symbol
    DEFB129provided by HGNC
    Official Full Name
    defensin beta 129provided by HGNC
    Primary source
    HGNC:HGNC:16218
    See related
    Ensembl:ENSG00000125903 Vega:OTTHUMG00000031618
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DEFB29; hBD-29; DEFB-29; C20orf87; bA530N10.3
    Summary
    Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See DEFB129 in Genome Data Viewer
    Location:
    20p13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (227258..229886)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (207899..210527)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene defensin beta 127 Neighboring gene defensin beta 128 Neighboring gene defensin beta 132 Neighboring gene chromosome 20 open reading frame 96

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Antimicrobial peptides, organism-specific biosystem (from REACTOME)
      Antimicrobial peptides, organism-specific biosystemAntimicrobial peptides (AMPs) are small molecular weight proteins with broad spectrum of antimicrobial activity against bacteria, viruses, and fungi (Zasloff M 2002; Radek K & Gallo R 2007). The majo...
    • Beta defensins, organism-specific biosystem (from REACTOME)
      Beta defensins, organism-specific biosystemHumans have 38 beta-defensin genes plus 9-10 pseudogenes (details available on the HGNC website at http://www.genenames.org/genefamilies/DEFB). Many beta-defensins are encoded by recently duplicated ...
    • Defensins, organism-specific biosystem (from REACTOME)
      Defensins, organism-specific biosystemThe defensins are a family of antimicrobial cationic peptide molecules which in mammals have a characteristic beta-sheet-rich fold and framework of six disulphide-linked cysteines (Selsted & Ouellet...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    defense response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    beta-defensin 129
    Names
    beta-defensin 29
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_080831.3NP_543021.1  beta-defensin 129 precursor

      See identical proteins and their annotated locations for NP_543021.1

      Status: REVIEWED

      Source sequence(s)
      AF525931, AI217663, BC070359
      Consensus CDS
      CCDS12992.1
      UniProtKB/Swiss-Prot
      Q9H1M3
      Related
      ENSP00000246105.4, OTTHUMP00000029901, ENST00000246105.4, OTTHUMT00000077430
      Conserved Domains (1) summary
      pfam13841
      Location:2654
      Defensin_beta_2; Beta defensin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

      Range
      227258..229886
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center